RASSF4

Ras association domain family member 4, the group of Ras association domain family

Basic information

Region (hg38): 10:44959406-44995891

Links

ENSG00000107551 ∙ NCBI:83937 ∙ OMIM:610559 ∙ HGNC:20793 ∙ Uniprot:Q9H2L5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RASSF4 gene.

• Inborn genetic diseases (19 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASSF4 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			17	3	4	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	17	4	5

Variants in RASSF4

This is a list of pathogenic ClinVar variants found in the RASSF4 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-44970215-T-A		not specified	Uncertain significance (Sep 14, 2022)
10-44970222-C-T		not specified	Uncertain significance (May 05, 2023)
10-44970223-G-A			Likely benign (Jan 03, 2018)
10-44970234-T-C		not specified	Uncertain significance (Dec 22, 2023)
10-44971843-C-T		not specified	Uncertain significance (Mar 24, 2023)
10-44977483-G-A		not specified	Uncertain significance (Oct 27, 2021)
10-44977730-T-C			Benign (Aug 03, 2017)
10-44977769-G-A		not specified	Likely benign (Aug 10, 2021)
10-44977783-C-T		not specified	Likely benign (Nov 05, 2021)
10-44978006-C-T		not specified	Uncertain significance (Jun 11, 2021)
10-44982567-G-A		not specified	Uncertain significance (Aug 17, 2021)
10-44982576-G-A		not specified	Uncertain significance (Jun 18, 2021)
10-44982585-G-A		not specified	Uncertain significance (Jul 22, 2022)
10-44982595-G-A		not specified	Likely benign (May 26, 2023)
10-44982596-C-G		not specified	Uncertain significance (Jun 11, 2021)
10-44982605-C-T		not specified	Uncertain significance (Sep 06, 2022)
10-44982606-G-A		not specified	Uncertain significance (Dec 08, 2023)
10-44982648-G-A		not specified	Likely benign (Nov 15, 2021)
10-44984028-G-T			Benign (May 09, 2018)
10-44984029-C-T		not specified	Uncertain significance (Feb 28, 2023)
10-44984070-C-A		not specified	Uncertain significance (Dec 26, 2023)
10-44984102-C-T		not specified	Uncertain significance (Jul 19, 2022)
10-44984104-G-A		not specified	Uncertain significance (Nov 06, 2023)
10-44984888-G-C		not specified	Uncertain significance (Jan 23, 2023)
10-44984902-G-A			Benign (May 09, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASSF4	protein_coding	protein_coding	ENST00000340258	10	36485

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.73e-13	0.0152	125633	0	115	125748	0.000457

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.140	192	198	0.972	0.0000123	2090
Missense in Polyphen		71	83.787	0.84739		931
Synonymous	-0.521	88	82.0	1.07	0.00000528	610
Loss of Function	-0.231	19	17.9	1.06	8.42e-7	215

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00163	0.00163
Ashkenazi Jewish	0.000402	0.000397
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000360	0.000352
Middle Eastern	0.000164	0.000163
South Asian	0.000229	0.000229
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potential tumor suppressor. May act as a KRAS effector protein. May promote apoptosis and cell cycle arrest. {ECO:0000269|PubMed:15574778}.
• Pathway: Hippo signaling pathway - multiple species - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0932

Intolerance Scores

• loftool: 0.917
• rvis_EVS: 0.73
• rvis_percentile_EVS: 86.27

Haploinsufficiency Scores

• pHI: 0.0992
• hipred: N
• hipred_score: 0.230
• ghis: 0.491

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.602

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rassf4

Gene ontology

• Biological process: cell cycle;signal transduction
• Molecular function: protein binding